KRTAP10-6 (keratin associated protein 10-6) - Rat Genome Database

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Gene: KRTAP10-6 (keratin associated protein 10-6) Homo sapiens
Analyze
Symbol: KRTAP10-6
Name: keratin associated protein 10-6
RGD ID: 1349451
HGNC Page HGNC:20523
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: high sulfur keratin-associated protein 10.6; KAP10.6; KAP18.6; keratin associated protein 18-6; keratin-associated protein 10-6; keratin-associated protein 10.6; keratin-associated protein 18-6; keratin-associated protein 18.6; KRTAP18-6; KRTAP18.6
RGD Orthologs
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,591,268 - 44,592,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,591,268 - 44,592,505 (-)EnsemblGRCh38hg38GRCh38
GRCh372146,011,149 - 46,012,386 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,835,577 - 44,836,814 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,835,576 - 44,836,814NCBI
Celera2131,118,823 - 31,120,060 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,384,980 - 31,386,589 (-)NCBIHuRef
CHM1_12145,571,769 - 45,573,006 (-)NCBICHM1_1
T2T-CHM13v2.02142,951,689 - 42,952,941 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953   PMID:12359730   PMID:12477932   PMID:14962103   PMID:15028290   PMID:32296183   PMID:36949045  


Genomics

Comparative Map Data
KRTAP10-6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,591,268 - 44,592,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,591,268 - 44,592,505 (-)EnsemblGRCh38hg38GRCh38
GRCh372146,011,149 - 46,012,386 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,835,577 - 44,836,814 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,835,576 - 44,836,814NCBI
Celera2131,118,823 - 31,120,060 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,384,980 - 31,386,589 (-)NCBIHuRef
CHM1_12145,571,769 - 45,573,006 (-)NCBICHM1_1
T2T-CHM13v2.02142,951,689 - 42,952,941 (-)NCBIT2T-CHM13v2.0
LOC100518807
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113204,987,662 - 204,988,803 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213215,243,922 - 215,245,151 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in KRTAP10-6
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1 copy number loss See cases [RCV000137922] Chr21:44502542..44720113 [GRCh38]
Chr21:44746853..44964456 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3 copy number gain See cases [RCV000138939] Chr21:44576109..45204790 [GRCh38]
Chr21:45995986..46624705 [GRCh37]
Chr21:44820414..45449133 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1 copy number loss See cases [RCV000142218] Chr21:44516679..45409275 [GRCh38]
Chr21:45936562..46829190 [GRCh37]
Chr21:44760990..45653618 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
chr21:45970718..47545826 complex variant complex Breast ductal adenocarcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.107A>C (p.Asp36Ala) single nucleotide variant not provided [RCV000224606] Chr21:44592378 [GRCh38]
Chr21:46012259 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45995986-46137118)x1 copy number loss See cases [RCV000449273] Chr21:45995986..46137118 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.112C>T (p.Pro38Ser) single nucleotide variant not specified [RCV004314936] Chr21:44592373 [GRCh38]
Chr21:46012254 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.820G>A (p.Val274Ile) single nucleotide variant not specified [RCV004310056] Chr21:44591665 [GRCh38]
Chr21:46011546 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_45629566)_(46330717_?)dup duplication Polyglandular autoimmune syndrome, type 1 [RCV000633454] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1 copy number loss not provided [RCV000741633] Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NC_000021.8:g.(?_45725202)_(46131429_?)dup duplication not provided [RCV001033805] Chr21:45725202..46131429 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:45992953-46151301)x1 copy number loss not provided [RCV000846612] Chr21:45992953..46151301 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45966645-46077563)x1 copy number loss not provided [RCV000845683] Chr21:45966645..46077563 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.1021G>C (p.Val341Leu) single nucleotide variant not specified [RCV004316617] Chr21:44591464 [GRCh38]
Chr21:46011345 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.1037G>A (p.Arg346His) single nucleotide variant not specified [RCV004324749] Chr21:44591448 [GRCh38]
Chr21:46011329 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45996567-46593248)x3 copy number gain not provided [RCV001007147] Chr21:45996567..46593248 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45725202)_(46234019_?)dup duplication not provided [RCV001033924] Chr21:45725202..46234019 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_45629566)_(46330717_?)del deletion Polyglandular autoimmune syndrome, type 1 [RCV001381160] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1 copy number loss not provided [RCV002291533] Chr21:45808650..47529568 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4 copy number gain not provided [RCV002474918] Chr21:45727195..46161988 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.360C>G (p.Cys120Trp) single nucleotide variant not specified [RCV004118046] Chr21:44592125 [GRCh38]
Chr21:46012006 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.17T>C (p.Met6Thr) single nucleotide variant not specified [RCV004201689] Chr21:44592468 [GRCh38]
Chr21:46012349 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.671G>A (p.Cys224Tyr) single nucleotide variant not specified [RCV004116813] Chr21:44591814 [GRCh38]
Chr21:46011695 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45843864-46176026)x3 copy number gain not provided [RCV002475676] Chr21:45843864..46176026 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.134C>T (p.Pro45Leu) single nucleotide variant not specified [RCV004197526] Chr21:44592351 [GRCh38]
Chr21:46012232 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.1036C>T (p.Arg346Cys) single nucleotide variant not specified [RCV004206120] Chr21:44591449 [GRCh38]
Chr21:46011330 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.397T>A (p.Ser133Thr) single nucleotide variant not specified [RCV004175782] Chr21:44592088 [GRCh38]
Chr21:46011969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.583C>G (p.Pro195Ala) single nucleotide variant not specified [RCV004150130] Chr21:44591902 [GRCh38]
Chr21:46011783 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.566C>T (p.Ala189Val) single nucleotide variant not specified [RCV004220940] Chr21:44591919 [GRCh38]
Chr21:46011800 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.105C>A (p.Asp35Glu) single nucleotide variant not specified [RCV004252227] Chr21:44592380 [GRCh38]
Chr21:46012261 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.740C>T (p.Ser247Phe) single nucleotide variant not specified [RCV004293311] Chr21:44591745 [GRCh38]
Chr21:46011626 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.371G>A (p.Cys124Tyr) single nucleotide variant not provided [RCV003327092] Chr21:44592114 [GRCh38]
Chr21:46011995 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_198688.3(KRTAP10-6):c.331G>A (p.Val111Met) single nucleotide variant not provided [RCV003431561] Chr21:44592154 [GRCh38]
Chr21:46012035 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_198688.3(KRTAP10-6):c.678G>C (p.Gln226His) single nucleotide variant not specified [RCV004414731] Chr21:44591807 [GRCh38]
Chr21:46011688 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.142G>A (p.Ala48Thr) single nucleotide variant not specified [RCV004414726] Chr21:44592343 [GRCh38]
Chr21:46012224 [GRCh37]
Chr21:21q22.3		 likely benign
NM_198688.3(KRTAP10-6):c.154T>C (p.Cys52Arg) single nucleotide variant not specified [RCV004414727] Chr21:44592331 [GRCh38]
Chr21:46012212 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.469G>A (p.Val157Met) single nucleotide variant not specified [RCV004414728] Chr21:44592016 [GRCh38]
Chr21:46011897 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_198688.3(KRTAP10-6):c.599G>A (p.Cys200Tyr) single nucleotide variant not specified [RCV004414730] Chr21:44591886 [GRCh38]
Chr21:46011767 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_198688.3(KRTAP10-6):c.1009A>C (p.Thr337Pro) single nucleotide variant not specified [RCV004639662] Chr21:44591476 [GRCh38]
Chr21:46011357 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:440
Count of miRNA genes:328
Interacting mature miRNAs:358
Transcripts:ENST00000400368
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
124 215 433 288 842 325 404 109 236 97 616 821 749 11 350 74 511 272 12

Sequence


Ensembl Acc Id: ENST00000400368   ⟹   ENSP00000383219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,591,268 - 44,592,505 (-)Ensembl
RefSeq Acc Id: NM_198688   ⟹   NP_941961
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,591,268 - 44,592,505 (-)NCBI
GRCh372146,011,149 - 46,012,386 (-)RGD
Build 362144,835,577 - 44,836,814 (-)NCBI Archive
Celera2131,118,823 - 31,120,060 (-)RGD
HuRef2131,384,980 - 31,386,589 (-)RGD
CHM1_12145,571,769 - 45,573,006 (-)NCBI
T2T-CHM13v2.02142,951,689 - 42,952,941 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_941961 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI40726 (Get FASTA)   NCBI Sequence Viewer  
  BAD01540 (Get FASTA)   NCBI Sequence Viewer  
  EAX09414 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000383219
  ENSP00000383219.1
GenBank Protein P60371 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_941961   ⟸   NM_198688
- UniProtKB: P60371 (UniProtKB/Swiss-Prot),   B9EIL2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000383219   ⟸   ENST00000400368

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60371-F1-model_v2 AlphaFold P60371 1-365 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20523 AgrOrtholog
COSMIC KRTAP10-6 COSMIC
Ensembl Genes ENSG00000188155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400368 ENTREZGENE
  ENST00000400368.1 UniProtKB/Swiss-Prot
GTEx ENSG00000188155 GTEx
HGNC ID HGNC:20523 ENTREZGENE
Human Proteome Map KRTAP10-6 Human Proteome Map
InterPro KAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:386674 UniProtKB/Swiss-Prot
NCBI Gene 386674 ENTREZGENE
PANTHER KERATIN-ASSOCIATED PROTEIN 10-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23262 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Keratin_B2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134871340 PharmGKB
UniProt B9EIL2 ENTREZGENE, UniProtKB/TrEMBL
  KR106_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE